A case of infantile osteopetrosis: The radioclinical features with literature update

• We presented the radioclinical manifestations of a boy with infantile osteopetrosis (IO).
• We presented the differential diagnosis of hereditary sclerosing bone dysplasias in childhood.
• Highly unique skeletal radiographic features of IO were present.
• The radioclinical correlation improves diagnostic accuracy.

BackgroundOsteopetrosis is a rare hereditary metabolic bone disorder characterized by generalized skeletal sclerosis caused by a defect in bone resorption and remodelling. Infantile autosomal recessive osteopetrosis is one of three subtypes of osteopetrosis and the most severe form. The correct and early diagnosis of infantile osteopetrosis is important for management of complications and for future genetic counselling. Diagnosis is largely based on clinical and radiographic evaluation, confirmed by gene testing where applicable.MethodsTherefore, in this case study the classical clinical and radiological signs of a boy with infantile osteopetrosis will be presented with a comprehensive literature update. The differentiating signs from other causes of hereditary osteosclerosing dysplasias are discussed.ResultsThis case study and review of available literature show that there tends to be a highly unique clinical and skeletal radiographic pattern of affection in infantile osteopetrosis.ConclusionAlthough tremendous advances have been made in the elucidation of the genetic defect of osteopetrosis over the past years, the role of accurate clinical and radiological assessment remains an important contributor to the diagnosis of infantile osteopetrosis.